: The aim of the present study was to analyze congenital central nervous system (CNS) malformations from paediatric autopsies and from surgical specimens, to recognise, record, categorise the congenital CNS malformations and to study its association with various maternal and fetal factors.
Materials and Methods: This is both prospective (June 2009 to May 2011) and retrospective study conducted during period of two and half decades i.e. from 1987 to May 2011 in a tertiary care hospital. Cases were selected from both pediatric autopsies and surgical specimens as per inclusion and exclusion criteria. Pediatric autopsy was conducted as per standard protocol after obtaining consent from parents.
Results: Out of 3492 pediatric autopsies, the CNS malformations were seen in 58 cases and out of 5639 pediatric surgical specimens, 85 were of CNS anomalies. In autopsy study neural tube defects (NTD), 20 cases (34.48%) were the most common followed by congenital hydrocephalus, 14 cases (24.14%). In surgical specimen study all were NTD except for one neuroenteric cyst. Conclusion: Neural tube defects were the most common CNS anomalies; majority of which could be surgically treated. CNS anomalies are associated with preterm births, low birth weight and younger maternal age.Although radiological investigations have high sensitivity in diagnosing CNS malformations, autopsy findings are essential to arrive at a definitive diagnosis.